Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs273898674
rs273898674
BRCA1
0.010 GeneticVariation BEFREE Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry. 24633894

2014
dbSNP: rs397508917
rs397508917
BRCA1
0.010 GeneticVariation BEFREE Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy). 24516540

2014
dbSNP: rs397509039
rs397509039
BRCA1
0.010 GeneticVariation BEFREE This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand. 19865540

2009
dbSNP: rs80357033
rs80357033
BRCA1
0.010 GeneticVariation BEFREE This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand. 19865540

2009
dbSNP: rs886037971
rs886037971
BRCA1
0.010 GeneticVariation BEFREE We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation. 19123044

2009
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. 30257991

2019
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls. 31341520

2019
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. 31347298

2019
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 30765603

2019
dbSNP: rs80357132
rs80357132
BRCA1
G 0.700 GeneticVariation CLINVAR Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 30765603

2019
dbSNP: rs80358108
rs80358108
BRCA1
C 0.700 GeneticVariation CLINVAR Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells. 30736279

2019
dbSNP: rs142074233
rs142074233
BRCA1
A 0.700 CausalMutation CLINVAR BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. 30078507

2018
dbSNP: rs273901754
rs273901754
BRCA1
A 0.700 GeneticVariation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs397507241
rs397507241
BRCA1
T 0.700 CausalMutation CLINVAR Accurate classification of BRCA1 variants with saturation genome editing. 30209399

2018
dbSNP: rs397507241
rs397507241
BRCA1
T 0.700 CausalMutation CLINVAR Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. 29470806

2018
dbSNP: rs397508902
rs397508902
BRCA1
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs397509164
rs397509164
BRCA1
GTTCT 0.700 CausalMutation CLINVAR Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers. 29673794

2018
dbSNP: rs398122685
rs398122685
BRCA1
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance. 30458859

2018
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. 28490613

2018
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 29712865

2018
dbSNP: rs45553935
rs45553935
BRCA1
G 0.700 CausalMutation CLINVAR Subsequent breast and high grade serous carcinomas after risk-reducing salpingo-oophorectomy in BRCA mutation carriers and patients with history of breast cancer. 30055521

2018
dbSNP: rs762635795
rs762635795
BRCA1
T 0.700 CausalMutation CLINVAR Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. 29470806

2018
dbSNP: rs80356857
rs80356857
BRCA1
T 0.700 CausalMutation CLINVAR The germline mutational landscape of BRCA1 and BRCA2 in Brazil. 29907814

2018
dbSNP: rs80356862
rs80356862
BRCA1
C 0.700 GeneticVariation CLINVAR Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine. 29997359

2018